| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000242067 |
| Start |
33383767:33383767(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1891G>A |
| AA Mutation |
p.Asp631Asn(p.D631N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000242067 |
| Start |
33605200:33605200(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2638T>G |
| AA Mutation |
p.Ser880Ala(p.S880A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000242067 |
| Start |
33273917:33273917(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.977T>G |
| AA Mutation |
p.Leu326Arg(p.L326R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |